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EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families

EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia (small, underd...

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Detalles Bibliográficos
Autores principales:	Harding, Philippa, Toms, Maria, Schiff, Elena, Owen, Nicholas, Bell, Suzannah, Lloyd, Ian Christopher, Moosajee, Mariya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7926380/ https://www.ncbi.nlm.nih.gov/pubmed/33671840 http://dx.doi.org/10.3390/ijms22042190

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